Síndrome de Leigh: Revisión Bibliográfica

Abstract

Leigh syndrome is a neurodegenerative mitochondrial disease with heterogeneous biochemical and genetic manifestations, classically characterized by the triad of regression or decreased progression of psychomotor development, bilateral symmetrical findings in the basal ganglia, and abnormalities in the respiratory chain. Its onset is usually in the first two years of life and its progression usually leads to early death. His suspicion is based on the clinic together with findings in laboratory and imaging studies. Its definitive diagnosis is given with the identification of the mutated gene related to the energy metabolism involved. Currently there is no curative treatment for this pathology, however, there are multiple vitamin and antioxidant compounds that can help provide a better quality of life in these patients.